Canonical Allele Identifier: CA414841869
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706799C>G , CM000686.2:g.19706799C>G GRCh38
NC_000024.9:g.21868685C>G , CM000686.1:g.21868685C>G GRCh37
NC_000024.8:g.20328073C>G NCBI36
NG_032920.1:g.43141G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4064G>C MANE Select ENSP00000322408.4:p.Gly1355Ala
ENST00000317961.8:c.4064G>C ENSP00000322408.4:p.Gly1355Ala
ENST00000382806.6:c.3893G>C ENSP00000372256.2:p.Gly1298Ala
ENST00000440077.5:c.3941G>C ENSP00000398543.1:p.Gly1314Ala
ENST00000469599.6:n.2662G>C
ENST00000492117.1:n.3956G>C
ENST00000541639.5:c.4157G>C ENSP00000444293.1:p.Gly1386Ala
NM_001146705.1:c.4157G>C NP_001140177.1:p.Gly1386Ala
NM_001146706.1:c.3893G>C NP_001140178.1:p.Gly1298Ala
NM_004653.4:c.4064G>C NP_004644.2:p.Gly1355Ala
XM_005262560.1:c.3929G>C XP_005262617.1:p.Gly1310Ala
XM_005262561.1:c.3833G>C XP_005262618.1:p.Gly1278Ala
XM_011531468.1:c.3986G>C XP_011529770.1:p.Gly1329Ala
XR_244571.2:n.4352G>C
XR_430568.2:n.4686G>C
XM_005262560.3:c.3929G>C XP_005262617.1:p.Gly1310Ala
XM_005262561.3:c.3833G>C XP_005262618.1:p.Gly1278Ala
XM_011531468.3:c.3986G>C XP_011529770.1:p.Gly1329Ala
XM_024452495.1:c.2054G>C XP_024308263.1:p.Gly685Ala
XM_024452496.1:c.1820G>C XP_024308264.1:p.Gly607Ala
XR_001756009.2:n.4802G>C
XR_001756010.2:n.4802G>C
XR_001756011.2:n.4667G>C
XR_001756012.2:n.4815G>C
XR_001756013.2:n.4133G>C
XR_002958832.1:n.4234G>C
XR_002958834.1:n.4458G>C
XR_002958835.1:n.4341G>C
XR_002958836.1:n.5024G>C
XR_002958837.1:n.4831G>C
XR_244571.4:n.4351G>C
XR_430568.4:n.4685G>C
NM_001146706.2:c.3893G>C NP_001140178.1:p.Gly1298Ala
NM_004653.5:c.4064G>C MANE Select NP_004644.2:p.Gly1355Ala
NM_001146705.2:c.4157G>C NP_001140177.1:p.Gly1386Ala